Pediatr Clin North Am. 2011 Oct;58(5):1281-300, xii.

Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.

Source

Adrenal Steroid Disorders Program, Division of Pediatric Endocrinology, Mount Sinai School of Medicine, 1 Gustave L. Levy Place, Box 1198, New York, NY 10029, USA.

Abstract

Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency. The three forms of CAH are then discussed in terms of clinical presentation, diagnosis and treatment, and genetic basis. Prenatal diagnosis and treatment are also reviewed. The goal of therapy is to correct the deficiency in cortisol secretion and suppress androgen overproduction. Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied.

PMID:: 21981961; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Review

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

21-hydroxylase deficiency - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Review Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia. [Endocrinol Metab Clin North Am...]
Review Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.
Nimkarn S, Lin-Su K, New MI. Endocrinol Metab Clin North Am. 2009 Dec; 38(4):699-718.
Review 21-hydroxylase deficiency congenital adrenal hyperplasia. [J Steroid Biochem Mol Biol. 1994]
Review 21-hydroxylase deficiency congenital adrenal hyperplasia.
New MI. J Steroid Biochem Mol Biol. 1994 Jan; 48(1):15-22.
An update of congenital adrenal hyperplasia. [Ann N Y Acad Sci. 2004]
An update of congenital adrenal hyperplasia.
New MI. Ann N Y Acad Sci. 2004 Dec; 1038:14-43.
Review Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. [Hum Reprod Update. 2004]
Review Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Forest MG. Hum Reprod Update. 2004 Nov-Dec; 10(6):469-85.
Review [Congenital adrenal hyperplasia]. [Med Pregl. 1999]
Review [Congenital adrenal hyperplasia].
Stanić M, Nesović M. Med Pregl. 1999 Nov-Dec; 52(11-12):447-54.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.

Recent activity

Clear Turn Off Turn On

Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.
Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.
Pediatr Clin North Am. 2011 Oct ;58(5):1281-300, xii.

PubMed
Congenital disorders of the thyroid: hypo/hyper.
Congenital disorders of the thyroid: hypo/hyper.
Pediatr Clin North Am. 2011 Oct ;58(5):1099-115, ix.

PubMed
The genetic validation of heterogeneity in schizophrenia.
The genetic validation of heterogeneity in schizophrenia.
Behav Brain Funct. 2011 Oct 7 ;7:43.

PubMed
The use of chimeric vimentin citrullinated peptides for the diagnosis of rheumat...
The use of chimeric vimentin citrullinated peptides for the diagnosis of rheumatoid arthritis.
J Med Chem. 2011 Nov 10 ;54(21):7486-92. Epub 2011 Oct 7 .

PubMed
Side effects of intradetrusor botulinum toxin injections on ejaculation and fert...
Side effects of intradetrusor botulinum toxin injections on ejaculation and fertility in men with spinal cord injury: preliminary findings.
BJU Int. 2012 Jun ;109(11):1698-702. doi: 10.1111/j.1464-410X.2011.10639.x. Epub 2011 Oct 7 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: